Abnormal positioning in which the elbows are turned out.

Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here.

Short (hypoplastic) phalanx of finger, affecting one or more phalanges.

A toe that appears disproportionately short compared to the foot.

Diminished length of one or more metacarpal bones in relation to the others of the same hand or to the contralateral metacarpal.

Short palm.

A measured foot length that is more than 2 SD below the mean for a newborn of 27 - 41 weeks gestation, or foot that is less than the 3rd centile for individuals from birth to 16 years of age (objective). Alternatively, a foot that appears disproportionately short (subjective).

Presence of only one (instead of two, as normal) interphalangeal crease of the fifth finger.

Underdevelopment of one or more carpal bones.

Phalanges of the fingers becoming thinner toward the distal end.

Metacarpal that becomes thinner toward the distal end.

A type of disproportionate short stature characterized by a short limbs but an average-sized trunk.

Slow or limited growth after birth.

Underdevelopment of the external ear.

An abnormal increase in the pitch (frequency) of the voice.

A disorder of bone growth affecting the vertebrae and the ends of the long bones (epiphyses).

A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints.

A flattened vertebral body shape with reduced distance between the vertebral endplates.

Reduction in the size or volume of epiphyses.

One or more abnormally short long bone.

Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), appreciated in profile, frontal view, and/or by palpation.

Underdevelopment of the ilium ala.

A defect of the chest wall characterized by a depression of the sternum, giving the chest ("pectus") a caved-in ("excavatum") appearance.

An excessive concavity of the anterior surface of one or more vertebral bodies.

A functional defect characterized by reduced total lung capacity (TLC) not associated with abnormalities of expiratory airflow or airway resistance. Spirometrically, a restrictive defect is defined as FEV1 (forced expiratory volume in 1 second) and FVC (forced vital capacity) less than 80 per cent. Restrictive lung disease may be caused by alterations in lung parenchyma or because of a disease of the pleura, chest wall, or neuromuscular apparatus.

Hoarseness refers to a change in the pitch or quality of the voice, with the voice sounding weak, very breathy, scratchy, or husky.

A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures.

Distance between the oral commissures more than 2 SD above the mean. Alternatively, an apparently increased width of the oral aperture (subjective).

The facial appearance is more circular than usual as viewed from the front.

The palpebral fissure inclination is more than two standard deviations above the mean for age (objective); or, the inclination of the palpebral fissure is greater than typical for age.

Diminished length of the neck.

Posterior positioning of the nasal root in relation to the overall facial profile for age.

Increased thickness of the lower lip, leading to a prominent appearance of the lower lip. The height of the vermilion of the lower lip in the midline is more than 2 SD above the mean. Alternatively, an apparently increased height of the vermilion of the lower lip in the frontal view (subjective).

Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject. This gives the appearance of an upturned nose (upturned nasal tip).

Absence of fine and sharp appearance of brows, nose, lips, mouth, and chin, usually because of rounded and heavy features or thickened skin with or without thickening of subcutaneous and bony tissues.

Height of the vermilion of the upper lip in the midline more than 2 SD above the mean. Alternatively, an apparently increased height of the vermilion of the upper lip in the frontal view (subjective).

Increased breadth of the nasal bridge (and with it, the nasal root).

Posterior positions and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle.

Increased side-to-side width of the neck.

Distance between nasal base and midline upper lip vermilion border more than 2 SD above the mean. Alternatively, an apparently increased distance between nasal base and midline upper lip vermilion border.

Abnormally curly or curved eyelashes.